Mismatch Repair Gene Polymorphisms and Association with Lung Cancer Development

Slovakova, P.; Majerová, L.; Matáková, Tatiana; Škereňová, Mária; Kavcová, E; Halašová, Erika

doi:10.1007/5584_2014_83

Cited by 13 publications

(6 citation statements)

References 16 publications

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“…This is better exemplified by Lynch syndrome and its increased incidence of hereditary non‐polyposis colorectal cancer (HNPCC) . In addition, studies demonstrating abnormal expression of MMR components in breast , prostate , urothelial , and lung cancers have also been described, usually showing a lower expression of MMR proteins.…”

Section: Mmr System and Your Proteinsmentioning

confidence: 99%

Mismatch repair system proteins in oral benign and malignant lesions

Amaral‐Silva

Martins

Pontes

et al. 2016

J Oral Pathology Medicine

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Different environmental agents may cause DNA mutations by disrupting its double-strand structure; however, even normal DNA polymerase function may synthesize mismatch nucleotide bases, occasionally demonstrating failure in its proofreading activity. To overcome this issue, mismatch repair (MMR) system, a group of proteins specialized in finding mispairing bases and small loops of insertion or deletion, works to avoid the occurrence of mutations that could ultimately lead to innumerous human diseases. In the last decades, the role of MMR proteins in oral carcinogenesis and in the development of other oral cavity neoplasms has grown, but their importance in the pathogenesis and their prognostic potential for patients affected by oral malignancies, especially oral squamous cell carcinoma (OSCC), remain unclear. Therefore, in this manuscript we aimed to review and critically discuss the currently available data on MMR proteins expression in oral potentially malignant lesions, in OSCC, and in other oral neoplasms to better understand their relevance in these lesions.

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Section: Mmr System and Your Proteinsmentioning

confidence: 99%

Mismatch repair system proteins in oral benign and malignant lesions

Amaral‐Silva

Martins

Pontes

et al. 2016

J Oral Pathology Medicine

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“…No exonic SNP in MSH2 was associated with the cancer risk (see Supplementary Materials ). A recent study revealed the association between SNP rs2303425 (c.-68-50T>C), localised in 5′ UTR region, and increased risk of lung cancer (OR = 2.28, 95% CI = 1.12–4.63, p = 0.024) in a Slovak population [ 82 ]. The same study showed on 422 cases and 486 controls that rs1800734 in MLH1 was associated with increased lung cancer risk (OR = 1.40, 95% CI = 1.08–1.82, p = 0.01); the interaction between rs1800734 and rs2303425 ( MSH2 ) revealed elevated risk for genotype GG/CC (OR = 3.08, 95% CI = 1.09–8.72, p = 0.03), which was further pronounced in females (OR = 11.56, 95% CI = 1.33–100.36, p = 0.005).…”

Section: Results On Mmr Gene Variantsmentioning

confidence: 99%

DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers

Čaja

Vodičková

Král

et al. 2020

IJMS

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The phenotypic effects of single nucleotide polymorphisms (SNPs) in the development of sporadic solid cancers are still scarce. The aim of this review was to summarise and analyse published data on the associations between SNPs in mismatch repair genes and various cancers. The mismatch repair system plays a unique role in the control of the genetic integrity and it is often inactivated (germline and somatic mutations and hypermethylation) in cancer patients. Here, we focused on germline variants in mismatch repair genes and found the outcomes rather controversial: some SNPs are sometimes ascribed as protective, while other studies reported their pathological effects. Regarding the complexity of cancer as one disease, we attempted to ascertain if particular polymorphisms exert the effect in the same direction in the development and treatment of different malignancies, although it is still not straightforward to conclude whether polymorphisms always play a clear positive role or a negative one. Most recent and robust genome-wide studies suggest that risk of cancer is modulated by variants in mismatch repair genes, for example in colorectal cancer. Our study shows that rs1800734 in MLH1 or rs2303428 in MSH2 may influence the development of different malignancies. The lack of functional studies on many DNA mismatch repair SNPs as well as their interactions are not explored yet. Notably, the concerted action of more variants in one individual may be protective or harmful. Further, complex interactions of DNA mismatch repair variations with both the environment and microenvironment in the cancer pathogenesis will deserve further attention.

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“…It resulted that this specific polymorphism is associated with a higher risk of tobacco-related OSCC and could represent a useful screening marker [ 60 ]. The sample size of this study is quite low: even though a significant association of this specific SNP has been detected also for colorectal, lung and endometrial cancers [ 70 , 71 , 72 ], future larger studies (e.g., GWAS stratified by MSI status) are needed to corroborate these results.…”

Section: Msi In Head and Neck Carcinogenesismentioning

confidence: 94%

The Mismatch Repair System (MMR) in Head and Neck Carcinogenesis and Its Role in Modulating the Response to Immunotherapy: A Critical Review

Cilona

Locatello

Novelli

et al. 2020

Cancers

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The mismatch repair (MMR) system has a major role in the detection and correction of DNA replication errors, resulting from DNA polymerase slippage or nucleotides misincorporation. Specific inherited/acquired alterations or epigenetic inactivation of MMR genes are associated with microsatellite instability (MSI): the loss of crucial function in repairing DNA alterations can promote carcinogenesis by favoring the accumulation of thousands of mutations in a broad spectrum of different anatomic sites such as colon, stomach, prostate, esophagus, endometrium, lung and head and neck. Recent extensive data suggest that tumor mutational burden strongly correlates with a clinical response to immunotherapy using checkpoint inhibitors and this response is influenced by MMR deficiency in a wide range of human solid cancers. In this context, few data about this crucial point are available for head and neck cancer (HNC). In this review, we discuss the role of MMR alterations and the resulting MSI in HNC pathogenesis. Furthermore, by summarizing the clinical available data on how they influence the progression of precancerous lesions and the risk of recurrence or second primary tumors, we want to define the current role of MSI in the management of HNC. Finally, we analyze the complex interaction between cancer cells and the immune system addressing the data now available about a potential correlation between microsatellite instability and immunotherapy response in HNC.

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Mismatch Repair Gene Polymorphisms and Association with Lung Cancer Development

Cited by 13 publications

References 16 publications

Mismatch repair system proteins in oral benign and malignant lesions

Mismatch repair system proteins in oral benign and malignant lesions

DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers

The Mismatch Repair System (MMR) in Head and Neck Carcinogenesis and Its Role in Modulating the Response to Immunotherapy: A Critical Review

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